Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913248A= , CM000674.2:g.110913248A= | GRCh38 |
| NC_000012.11:g.111351052A= , CM000674.1:g.111351052A= | GRCh37 |
| NC_000012.10:g.109835435A= | NCBI36 |
| NG_007554.1:g.12330T= , LRG_393:g.12330T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.351T= MANE Select | ENSP00000228841.8:p.Asp117= | |
| ENST00000663220.1:c.294T= | ENSP00000499568.1:p.Asp98= | |
| ENST00000228841.12:c.351T= | ENSP00000228841.7:p.Asp117= | |
| ENST00000548438.1:c.309T= | ENSP00000447154.1:p.Asp103= | |
| ENST00000549029.1:n.182T= | ||
| NM_000432.3:c.351T= , LRG_393t1:c.351T= | NP_000423.2:p.Asp117= | |
| NM_000432.4:c.351T= MANE Select | NP_000423.2:p.Asp117= |